chr2:47374035:C>T Detail (hg38) (EPCAM)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:47,601,174-47,601,174 View the variant detail on this assembly version.
hg38	chr2:47,374,035-47,374,035

HGVS

EPCAM

Type	Transcript	Protein
RefSeq	NM_002354.2:c.412C>T	NP_002345.2:p.Arg138Ter
Ensemble	ENST00000263735.9:c.412C>T	ENST00000263735.9:p.Arg138Ter
	ENST00000405271.5:c.496C>T	ENST00000405271.5:p.Arg166Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

EPCAM

Type	Database	ID	Link
Gene	MIM	185535	OMIM
	HGNC	11529	HGNC
	Ensembl	ENSG00000119888	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv187070992	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-03-25	criteria provided, single submitter	congenital diarrhea 5 with tufting enteropathy	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.562	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) AND Congenital diarrhea 5 with tufting enteropathy	ClinVar	Detail
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) AND Gastric cancer	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs397514661 dbSNP
Genome: hg38
Position: chr2:47,374,035-47,374,035
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120850
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.274720728175424E-6

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